Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function.

ABSTRACT: Investigators have linked rare copy number variation (CNVs) to neuropsychiatric diseases, such as schizophrenia. One hypothesis is that CNV events cause disease by affecting genes with specific brain functions. Under these circumstances, we expect that CNV events in cases should impact brain-function genes more frequently than those events in controls. Previous publications have applied "pathway" analyses to genes within neuropsychiatric case CNVs to show enrichment for brain-functions. While such analyses have been suggestive, they often have not rigorously compared the rates of CNVs impacting genes with brain function in cases to controls, and therefore do not address important confounders such as the large size of brain genes and overall differences in rates and sizes of CNVs. To demons

SUBMITTER: Raychaudhuri S 

PROVIDER: S-EPMC2936523 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature